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16p11.2 microdeletion syndrome: a case report

BACKGROUND: The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION: Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineo...

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Detalles Bibliográficos
Autores principales:	Dell’Edera, D., Dilucca, C., Allegretti, A., Simone, F., Lupo, M. G., Liccese, C., Davanzo, R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881179/ https://www.ncbi.nlm.nih.gov/pubmed/29609622 http://dx.doi.org/10.1186/s13256-018-1587-1

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